Preprint finds circular RNA QTLs overlap more with splicing variants than expression variants

A preprint posted to bioRxiv reports a systematic analysis of circular RNA quantitative trait loci (circQTLs) — genetic variants that influence the abundance of circular RNAs — and their relationship to matched splicing QTL (sQTL) and expression QTL (eQTL) datasets.

Using bootstrap-based Jaccard similarity analyses to quantify genomic overlap, the authors find that circQTLs show substantially stronger co-localisation with sQTLs than with eQTLs. The pattern was replicated across independent datasets. The result supports a mechanistic model in which genetic variation shapes circRNA biogenesis primarily through effects on the splicing machinery rather than through changes in overall transcriptional output.

Circular RNAs are a class of non-polyadenylated RNA molecules generated by back-splicing; their functional roles and regulatory genetics remain an active area of investigation. This work provides a framework for integrating circQTL data with existing functional genomic resources and may help prioritise variants for functional follow-up in post-transcriptional gene regulation research.

This study is a preprint and has not yet been peer-reviewed.